nsv4455349
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:615,370
- Description:GRCh37/hg19 8q12.1(chr8:57699846-58315215)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1803 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1803 SVs from 100 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4455349 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 56,787,287 | 57,402,656 |
nsv4455349 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 57,699,846 | 58,315,215 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15772462 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847683.2, VCV000686975.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15772462 | Remapped | Perfect | NC_000008.11:g.(?_ 56787287)_(5740265 6_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 56,787,287 | 57,402,656 |
nssv15772462 | Submitted genomic | NC_000008.10:g.(?_ 57699846)_(5831521 5_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 57,699,846 | 58,315,215 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15772462 | GRCh37: NC_000008.10:g.(?_57699846)_(58315215_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000847683.2, VCV000686975.2 | 1 |